Clinical trials: Intellectual Disabilities Nutritional
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
Hunter Syndrome, Mucopolysaccharidosis II
Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
The objective of this study is to determine the safety of once weekly dosing of idursulfase 0.5 mg/kg administered by intravenous (IV) infusion for male Hunter syndrome patients ≤ 5 years old.
- Conditions
- Hunter Syndrome, Mucopolysaccharidosis II, MPS II
- Trial name
- NCT00607386
- Testing
- Idursulfase
- Where
- 3 sites in Brazil, Poland and 1 more
- Volunteers
- 28 people
- Sponsor
- Shire
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
The purpose of the study is to collect preliminary data on whether the drug adalimumab (also called Humira) can decrease pain and stiffness, improve quality of life, and is safe in people with mucopolysaccharidosis type I, II, or…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
- Trial name
- NCT02437253
- Testing
- Adalimumab
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
RETT Syndrome With Proven MECP2 Mutation
Osteoporosis in RETT Syndrome
Based on our clinical observations, many girls with RETT syndrome, a severe neuro-developmental encephalopathy, suffer from osteoporosis which can appear at a very early age (before age 10) and can lead to fractures, pain and a…
- Trial name
- OSRETT (NCT02110797)
- Testing
- biological markers and evaluation of the mineral density at the lumber spine using DEXA
- Where
- France
- Volunteers
- 98 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Mucopolysaccharidosis II
Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)
The purpose of this study is to determine whether the administration of iduronate-2-sulfatase enzyme in a weekly or every other week therapy frequency is safe and efficacious in patients with MPS II.
- Trial name
- NCT00069641
- Testing
- Iduronate-2-sulfatase enzyme replacement therapy
- Where
- 9 sites in United States, Brazil and 2 more
- Volunteers
- 96 people
- Sponsor
- Shire
Lesch-Nyhan Syndrome
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism.
- Trial name
- NCT05548751
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people
- Sponsor
- Uskudar University
Mucopolysaccharidosis (MPS), Hunter Syndrome
Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S).
- Trial name
- NCT01822184
- Where
- 7 sites in United States, Argentina and 3 more
- Volunteers
- 100 people
- Sponsor
- Shire
Obesity, Genetic Disorder
Brain-Derived Neurotrophic Factor in Obesity and Brain Function
Background: Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems.
- Conditions
- Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
- Trial name
- NCT01517048
- Where
- 2 sites in United States, Canada
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Prader-Willi Syndrome, Hyperphagia
Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome
This Phase 2b/3 double-blind, placebo-controlled study will evaluate the safety, tolerability, and effects of livoletide on food-related behaviors in patients with Prader-Willi Syndrome (PWS).
- Trial name
- ZEPHYR (NCT03790865)
- Testing
- Livoletide
- Where
- 37 sites in United States, Australia and 6 more
- Volunteers
- 158 people
- Sponsor
- Millendo Therapeutics SAS
Menkes Disease
NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease
This clinical trial will evaluate the safety, tolerability, dosing, and efficacy of Northera (Droxidopa) in children with Menkes disease aged 7 to 17 years who survived the major neurodegenerative and neurocognitive effects of…
- Trial name
- NCT07398508
- Testing
- Droxidopa Oral Product
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Stephen G. Kaler
Prader Willi Syndrome, Obsessive-compulsive Disorder
Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project
Obsessive-compulsive (OC) symptoms are often present among youth with Prader-Willi Syndrome (PWS). They are also associated with considerable problems in the daily functioning of the child and his/her family.
- Trial name
- NCT00742664
- Testing
- Cognitive-behavioral therapy, Wait-list control
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- University of South Florida
Epilepsy, GLUT1DS1
Long-term Treatment With the Ketogenic Diet in Epilepsy
This study will provide a comprehensive assessment of long-term treatment with the ketogenic diet, a medical diet with high fat and low carbohydrate intake, focusing on safety and cardiovascular implications.
- Conditions
- Epilepsy, GLUT1DS1, PDH Deficiency
- Trial name
- NCT04646850
- Testing
- Color duplex ultrasound of the carotid arteries
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital