Clinical trials: Genetics of Drug Metabolism
Congenital Adrenal Hyperplasia (CAH)
Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia
This study was developed to determine if a combination of four drugs (flutamide, testolactone, reduced hydrocortisone dose, and fludrocortisone) can normalize growth in children with congenital adrenal hyperplasia.
- Trial name
- NCT00001521
- Testing
- Fludrocortisone, Hydrocortisone, Letrozole
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Cerebral Adrenoleukodystrophy (CALD)
A Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
The purpose of this study is to evaluate the efficacy and safety of Lenti-D Drug Product (also known as elivaldogene autotemcel or Skysona, hereafter referred to as eli-cel) after myeloablative conditioning with busulfan and…
- Trial name
- NCT03852498
- Testing
- Lenti-D
- Where
- 8 sites in United States, France and 4 more
- Volunteers
- 35 people
- Sponsor
- Genetix Biotherapeutics Inc.
Sanfilippo Syndrome, Mucopolysaccharidosis (MPS)
An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.
This extension study will allow participants to continue receiving treatment with HGT-1410 and to initiate treatment in patients who received no-treatment in Study HGT-SAN-093, and will evaluate the long-term safety and efficacy…
- Trial name
- NCT02350816
- Testing
- HGT-1410
- Where
- 8 sites in United States, France and 5 more
- Volunteers
- 17 people
- Sponsor
- Shire
Mucopolysaccharidosis (MPS)
Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients
Sanfilippo syndrome, or Mucopolysaccharidosis (MPS) III, is a rare lysosomal storage disease (LSD) caused by loss in activity of 1 of 4 enzymes necessary for degradation of the glycosaminoglycan (GAG) heparan sulfate (HS) in…
- Trial name
- NCT01155778
- Testing
- Recombinant human heparan N-sulfatase (rhHNS)
- Where
- 2 sites in Netherlands, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Shire
Hunter Syndrome
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Elaprase (idursulfase), a large molecular protein, is not expected to cross the blood brain barrier at therapeutic levels when administered intravenously.
- Trial name
- NCT00920647
- Testing
- Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Shire
Metachromatic Leukodystrophy (MLD)
Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)
The purpose of this study is to determine the safety of ascending doses of HGT-1110 administered by intrathecal (IT) injection for 38 weeks (20 injections) in children with metachromatic leukodystrophy (MLD).
- Trial name
- IDEAMLD (NCT01510028)
- Testing
- Recombinant human arylsulfatase A
- Where
- 5 sites in Australia, Denmark and 3 more
- Volunteers
- 24 people
- Sponsor
- Shire
Inherited Mitochondrial Disease
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical…
- Trial name
- NCT05218655
- Testing
- Vatiquinone
- Where
- 26 sites in United States, France and 5 more
- Volunteers
- 101 people
- Sponsor
- PTC Therapeutics
PH1, Primary Hyperoxaluria
An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1
The purpose of this study is to evaluate the long-term safety and tolerability of lumasiran in participants with Primary Hyperoxaluria Type 1.
- Conditions
- PH1, Primary Hyperoxaluria, RNAi Therapeutic, siRNA
- Trial name
- NCT03350451
- Testing
- Lumasiran
- Where
- 9 sites in France, Germany and 3 more
- Volunteers
- 20 people
- Sponsor
- Alnylam Pharmaceuticals
Friedreich's Ataxia
(+) Epicatechin to Treat Friedreich's Ataxia
This 24-week study will test the safety and effectiveness of synthetically produced (+) Epicatechin in treating patients who have Friedreich's Ataxia, a neurological disorder.
- Trial name
- NCT02660112
- Testing
- (+)-Epicatechin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Ralitza Gavrilova
Prader-Willi Syndrome
A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Participants With Prader-Willi Syndrome
The objective of this study is to assess the long-term safety and tolerability of Cannabidiol Oral Solution (CBD) in participants with Prader-Willi Syndrome.
- Trial name
- NCT03458416
- Testing
- Cannabidiol Oral Solution
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Radius Pharmaceuticals, Inc.
Mitochondrial Diseases, Drug Resistant Epilepsy
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase.
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome
- Trial name
- MIT-E (NCT04378075)
- Testing
- Vatiquinone
- Where
- 27 sites in United States, Canada and 7 more
- Volunteers
- 68 people
- Sponsor
- PTC Therapeutics
Mucopolysaccharidosis Type 7
An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the…
- Trial name
- NCT01856218
- Testing
- UX003
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Primary Hypercholesterolemia and Homozygous Familial Hypercholesterolemia (HoFH)
Vytorin Reexamination Study (0653A-174)
This survey is conducted for preparing application material for re-examination under the Pharmaceutical Affairs Laws and its Enforcement Regulation, its aim is to reconfirm the clinical usefulness of VYTORIN through collecting…
- Trial name
- NCT01070966
- Volunteers
- 2,089 people
- Sponsor
- Organon and Co
Sanfilippo Syndrome
Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo syndrome Type A, or Mucopolysaccharidosis (MPS) IIIA, is a rare lysosomal storage disease caused by deficiency of the enzyme heparan N-sulfatase (sulfamidase).
- Trial name
- NCT02060526
- Testing
- Recombinant human heparan N-sulfatase [rhHNS]
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire