An Early Phase 1 interventional study of Aprepitant Powder for Oral Suspension in CLIFAHDD, Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay and NALCN Channelopathy, sponsored by The University of Texas Health Science Center at San Antonio. Recruiting at 1 site in United States. Open to participants aged 6 Months and older. Per ClinicalTrials.gov, last updated 2026-11-05.
Sponsored by The University of Texas Health Science Center at San Antonio · Early Phase 1, Interventional, and Treatment
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Among 17 studies in Muscle Hypotonia with a site in United States — 4 open to participants now, 5 under way, none of them phase 3. Muscle Hypotonia · United States.
Among the 17 studies in Muscle Hypotonia with a site in United States, this one is the 9th largest by planned enrollment of the 11 interventional ones that give a count, is one of 2 that started in 2026, is one of 2 in phase 1, and was the 17th registered.
66 studies on the registry are indexed under Muscle Hypotonia; 14 are open to participants now.
Browse Muscle Hypotonia studies →4 of the 17 studies in Muscle Hypotonia with a site in United States are open now. Recruiting first, the newest first:
Columbia University · Sites in United States
National Human Genome Research Institute (NHGRI) · Sites in United States
Ages 1 mo–80 yrs
University of Michigan · Sites in United States
Ages 3–23
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 8 Muscle Hypotonia studies recruiting now, 3 set no upper age limit and 3 stop at 75 or younger; 5 take children under 18; none take healthy volunteers.
This study: 6 Months and older · all sexes · no healthy volunteers.
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17 studies; the count open now beside each. This study's row is marked.
First in 2003; this study’s year is marked. 2 started in 2026.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 5 is below the median of 49 across 43 interventional studies indexed under Muscle Hypotonia.
Median enrollment 16 across the 11 interventional studies, 43 across the 6 observational. Of the 10 that completed or were terminated, 4 (40%) have results posted.
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3 of 17 have an industry lead sponsor. The 10 most frequent:
The University of Texas Health Science Center at San Antonio is the lead sponsor of 445 studies on the registry; 89 are open to participants now.
Of its 65 completed or terminated interventional studies of FDA-regulated products, 35 (54%) have results posted.
The University of Texas Health Science Center at San Antonio has 1 study filed under Muscle Hypotonia — fewer than ten, so there is no comparison to draw.
1 of the studies in Muscle Hypotonia with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT07845825The University of Texas Health Science Center at San AntonioAprepitant for the Treatment of CLIFAHDD | 2027-05-31 |
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Among the 17 studies in Muscle Hypotonia with a site in United States, from their registry updates:
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There are no drug treatments for individuals with Congenital Contractures of the Limb and Face, Hypotonia, and Developmental Delay (CLIFAHDD), an ultra-rare and severe neurodevelopmental disease. The investigators have learned more about the cause of the disease and researched possible treatments based on both the cause of the disease and the way certain drugs work. The investigators are interested in understanding the safety of using aprepitant (a drug already approved by the United States Food \& Drug Administration [FDA] to treat nausea and vomiting for kids and adults who are receiving chemotherapy) on people diagnosed with CLIFAHDD. The overall goal of this Phase 1 study is to study whether this drug is safe for daily use in individuals with CLIFAHDD and to find more information on how it impacts daily functioning and quality of life. The total study will take around 8 months total. This includes the 90 days before the drug starts and the 21 days after the drug ends.
The sodium leak ion channel NALCN is responsible for a background sodium influx that contributes to the resting membrane potential and serves as a key regulator in neuronal and cell excitability. Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD; OMIM 616266) is a debilitating and ultra-rare neurodevelopmental disease with early infancy onset caused by a de novo autosomal dominant mutation in NALCN, often associated with NALCN gain-of-function (GOF). CLIFAHDD is associated with global neurodevelopmental delay, hyperkinetic movement disorders (e.g., dystonia, chorea, ataxia), seizures, apnea, constipation, insomnia, and increased risk of early childhood mortality. There are currently no drug treatments for CLIFAHDD. A multidisciplinary drug repurposing pipeline identified aprepitant as a promising lead candidate with converging functional, in silico, in vitro, and in vivo preclinical data support.
The primary objective of this Phase 1 clinical trial is to determine the safety, tolerability and pharmacokinetics (PK) of chronic aprepitant use in individuals with CLIFAHDD. The hypothesis is that aprepitant will be safe, tolerable, and amendable to chronic use in patients with CLIFAHDD based on prior safety and PK data on aprepitant use in pediatric and adult populations, including off-label chronic use. The exploratory objectives are: (1) to identify potential pharmacodynamic biomarkers reflecting NALCN pathway modulation; (2) to assess preliminary signals of clinical efficacy and outcome measures for future trials.
The study is designed as a single-center, Phase 1, open-label, dose-escalation study designed to evaluate the safety, tolerability, and PK of chronically administered oral aprepitant in individuals with CLIFAHDD (n=3-5, with protocol-defined criteria allowing expansion to a max n=5).
Participants will undergo evaluations of disease severity and symptoms over a 90 day lead-in period. For the baseline visit and initiation of cycle 1, participants will travel to UTHSA for onsite clinical monitoring, collection of baseline clinical outcome assessments, and PK assessments. Following the initial dose, each participant's biological and pharmacokinetic response will be evaluated over a 72-hour period. PK sampling will include an 8-point plasma concentration-time profile followed by additional blood draws. After the initial PK assessment, participants will enter a structured dose escalation period, during which aprepitant will be increased in 1mg/kg every 4 weeks. PK analyses with an 8-point plasma concentration-time profile will be performed at the end of each 4-week cycle to establish steady state drug availability with chronic dosing. Safety evaluations, clinical outcome assessments, and pharmacodynamic biomarkers will be assessed at the end of each 4-week cycle. Safety data (rather than PK analyses) will be used to guide dose escalation and will be reviewed in real time by the study clinician and Principal Investigator, without a planned pause in study conduct. Escalation will continue until either a maximum tolerated dose (MTD) is established or the maximum FDA-approved dose is reached. At the maximum dose or end of Cycle 3, participants will undergo an 8-point plasma concentration-time profile to characterize dose-dependent PK changes and elimination. Participants will undergo details safety, clinical, and pharmacodynamic biomarker assessments. Remote safety monitoring will continue for 3 weeks
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Has adequate organ functions as defined by the following laboratory parameters at baseline (laboratory parameters outside of these ranges that are deemed clinically insignificant should be discussed with the Independent Safety Monitor):
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
The number of neutrophils, white blood cells that help fight infection, in a given amount of blood. Too few raises the risk of infection.
It is a count, not a percentage of the white cells. Limits are written in units that mean the same: ≥ 1.5 × 10⁹/L is ≥ 1,500 per mm³ (µL). Each lab has its own reference range.
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Two enzymes measured in a routine blood test of the liver. Higher levels can mean the liver is under strain or damaged. SGPT and SGOT are older names for ALT and AST.
Criteria usually give a limit as a multiple of the upper limit of normal (ULN), often higher when cancer has spread to the liver.
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
A yellow substance made when red blood cells are broken down, which the liver clears. A high level can mean a problem with the liver or the bile ducts.
Criteria often allow more for people with Gilbert’s syndrome, a harmless inherited condition that raises bilirubin.
How quickly the kidneys clear creatinine, a waste product, from the blood. A study may estimate it from a blood test with age, weight and sex (often by the Cockcroft–Gault formula), or measure it using blood and urine collected over a set time. Given in mL/min; higher is better.
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Ways of preventing pregnancy. “Highly effective” methods fail less than 1% of the time a year when used correctly — for example an IUD or an implant.
Criteria usually say which methods count and how long to keep using them after the last dose, sometimes for male participants too. Some studies accept a partner’s vasectomy if it was confirmed successful and that person is the participant’s only sexual partner.
An allergy, or another reaction of the immune system, to a substance. “Hypersensitivity to the study drug” means a known allergic reaction to it — not every side effect a medicine can have.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
CYP3A is a group of enzymes, mainly CYP3A4, in the liver and gut that break down many medicines. Some medicines, supplements and foods (grapefruit, St John’s wort) slow them down or speed them up, which changes how much of a study drug stays in the body.
Studies list them so they can be avoided or switched; bring a list of everything you take, including supplements.
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Absolute neutrophil count (ANC)
The number of neutrophils, white blood cells that help fight infection, in a given amount of blood. Too few raises the risk of infection.
It is a count, not a percentage of the white cells. Limits are written in units that mean the same: ≥ 1.5 × 10⁹/L is ≥ 1,500 per mm³ (µL). Each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hemoglobin (Hb)
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ALT and AST (liver enzymes)
Two enzymes measured in a routine blood test of the liver. Higher levels can mean the liver is under strain or damaged. SGPT and SGOT are older names for ALT and AST.
Criteria usually give a limit as a multiple of the upper limit of normal (ULN), often higher when cancer has spread to the liver.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ULN (upper limit of normal)
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Bilirubin
A yellow substance made when red blood cells are broken down, which the liver clears. A high level can mean a problem with the liver or the bile ducts.
Criteria often allow more for people with Gilbert’s syndrome, a harmless inherited condition that raises bilirubin.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Creatinine clearance (CrCl)
How quickly the kidneys clear creatinine, a waste product, from the blood. A study may estimate it from a blood test with age, weight and sex (often by the Cockcroft–Gault formula), or measure it using blood and urine collected over a set time. Given in mL/min; higher is better.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
INR, PT and aPTT (clotting tests)
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraception
Ways of preventing pregnancy. “Highly effective” methods fail less than 1% of the time a year when used correctly — for example an IUD or an implant.
Criteria usually say which methods count and how long to keep using them after the last dose, sometimes for male participants too. Some studies accept a partner’s vasectomy if it was confirmed successful and that person is the participant’s only sexual partner.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hypersensitivity
An allergy, or another reaction of the immune system, to a substance. “Hypersensitivity to the study drug” means a known allergic reaction to it — not every side effect a medicine can have.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
CYP3A (CYP3A4) inhibitors and inducers
CYP3A is a group of enzymes, mainly CYP3A4, in the liver and gut that break down many medicines. Some medicines, supplements and foods (grapefruit, St John’s wort) slow them down or speed them up, which changes how much of a study drug stays in the body.
Studies list them so they can be avoided or switched; bring a list of everything you take, including supplements.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinically significant
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participant enrolled in the study will be administered oral aprepitant to evaluate safety and tolerability
Drug: Aprepitant Powder for Oral Suspension
Administration will begin at 1mg/kg up to a maximum of 40mg in weeks 1-4, then escalate to 2mg/kg up to a maximum of 80mg in weeks 5-8, then 3mg/kg up to a maximum of 125mg in weeks 9-12
Also known as: Emend
Number of Adverse events
Adverse events will be assessed for relatedness to the study drug and assessed according to Common Terminology Criteria for Adverse Events (CTCAE) grade
Time frame: Baseline to 24 weeks
Dose-limiting toxicity (DLT)
Number of events that lead to specified worsening of patients neurologic or non-neurologic condition during the treatment period which may lead to study treatment interruption for more than 14 days
Time frame: Baseline to 24 weeks
Maximum administered dose
The highest dose at which no more than one instance of DLT is observed, or the maximum labeled dose
Time frame: Baseline to 24 weeks
Area under the concentration-time curve (AUC)
The area under the concentration vs. time curve is a useful description of exposure of drug following administration. Following the initial dose, each participant's biological and pharmacokinetic response will be evaluated over a 72-hour period over a single dosing interval.
Time frame: Dose time to 72 hours
Plan to share: Yes — Individual Participant Data will be deidentified and shared with Cures Within Reach and Channeling Hope Foundation (study sponsors). Aggregated data will be shared as summary results on ClinicalTrials.gov and in a peer review journal. All de-identified individual participant data will be shared with external investigators with reasonable requests and agreements in place.
Supporting information: Statistical analysis plan, Informed consent form, Clinical study report
Time frame: After study completion and data analysis and acceptance into a peer review journal.
Start is estimated for Oct 2026; primary completion for May 2027, 7 months later.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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Studies of the drug tested here: Aprepitant
The University of Texas Health Science Center at San Antonio →