Clinical trials: Mucinoses
Hunter Syndrome
Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
Study HGT-HIT-094 is a multicenter study designed to determine the effect on clinical parameters of neurodevelopmental status of monthly IT administration of idursulfase-IT 10 mg for 12 months in pediatric patients with Hunter…
- Trial name
- AIM-IT (NCT02055118)
- Testing
- idursulfase-IT, No IT treatment
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 58 people
- Sponsor
- Shire
Hunter Syndrome
An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
The objective of this study is to evaluate the effect of anti-idursulfase antibodies on idursulfase safety (measured by infusion related adverse events) between patients who develop anti-idursulfase antibodies and patients who do…
- Trial name
- NCT00882921
- Testing
- Idursulfase
- Where
- 6 sites in United States, Brazil and 1 more
- Volunteers
- 26 people
- Sponsor
- Shire
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
Achondroplasia
Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia
All participants who completed the prior study to assess long-term safety, tolerability, pharmacokinetics and efficacy, and in the opinion of the investigator, continue to have a positive risk:benefit profile, will be offered to…
- Trial name
- NCT05116046
- Testing
- Recifercept
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 35 people
- Sponsor
- Pfizer
Hunter Syndrome
Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in…
- Trial name
- NCT00937794
- Testing
- Neurobehavioral testing, Visual and auditory assessments
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Shire
Ganglion of Wrist
Dorsal Wrist Ganglia; Aspiration Alone vs Aspiration and Injection of Platelet Rich Plasma
Study to examine the efficacy of Platelet Rich Plasma (PRP) to reduce recurrence in dorsal wrist ganglia (DWG). We will compare aspiration alone and aspiration with injection of PRP. We plan to recruit a maximum of 200 patients.
- Trial name
- NCT03408808
- Testing
- Platelet rich plasma, Aspiration alone
- Where
- United Kingdom
- Volunteers
- 17 people
- Sponsor
- University of Aberdeen
Mucopolysaccharidosis IVA, Morquio A Syndrome
Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)
This open-label Phase 2 study will evaluate the safety and efficacy of weekly 2.0 mg/kg/wk infusions of BMN 110 in pediatric patients, less than 5 years of age at the time of administration of the first dose of study drug…
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01515956
- Testing
- BMN 110
- Where
- 5 sites in United States, Italy and 2 more
- Volunteers
- 15 people
- Sponsor
- BioMarin Pharmaceutical
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
MPS IV A, Mucopolysaccharidosis IVA
A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
This multicenter, open-label extension study is designed to assess long-term efficacy and safety of 2.0 milligrams (mg)/kilogram(kg)/week of BMN 110 in patients diagnosed with Mucopolysaccharidosis IVA (MPS IVA).
- Conditions
- MPS IV A, Mucopolysaccharidosis IVA, Morquio A Syndrome
- Trial name
- NCT01242111
- Testing
- BMN 110
- Where
- 4 sites in United Kingdom
- Volunteers
- 20 people
- Sponsor
- BioMarin Pharmaceutical
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
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
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
This extension study of HGT-HIT-045 is designed to collect long-term safety data in pediatric participants with Hunter syndrome and cognitive impairment who are receiving intrathecal (IT) idursulfase-IT and intravenous (IV)…
- Trial name
- NCT01506141
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- Takeda
Healthy
Pregabalin and Colonic Function
This study is being done to evaluate the effects of pregabalin, a drug approved for anticonvulsive therapy and for neuropathic pain, on colonic and sensory functions in healthy individuals.
- Trial name
- NCT01094808
- Testing
- Pregabalin, Bowel preparation
- Where
- United States
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
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
Sanfilippo Syndrome Type A (MPS IIIA)
A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients
MPS IIIA, also known as Sanfilippo A, is an inherited lysosomal storage disease (LSD). MPS IIIA is caused by a deficiency in sulfamidase, one of the enzymes involved in the lysosomal degradation of the glycosaminoglycan (GAG)…
- Trial name
- NCT03423186
- Testing
- SOBI003
- Where
- 4 sites in United States, Germany and 1 more
- Volunteers
- 6 people
- Sponsor
- Swedish Orphan Biovitrum
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 I, Mucopolysaccharidosis II
Clinical Trial of Growth Hormone in MPS I, II, and VI
The purpose of this study is to determine whether growth hormone is a safe and effective treatment for short stature in children with Mucopolysaccharidosis type I, II, and VI.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT00748969
- Testing
- Somatropin (DNA origin)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Mucopolysaccharidosis I, Hurler's Syndrome
A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants
The purpose of this study is to determine if laronidase is present in the breast milk of post-partum women receiving Aldurazyme® (laronidase) and the effects of Aldurazyme (laronidase) on the growth, development, and immunologic…
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie
- Trial name
- NCT00418821
- Testing
- Laronidase
- Where
- Italy
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis I, Hurler Syndrome
Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
This is a multi-center, open label, study conducted to evaluate the safety of laronidase administered by intravenous drip infusion in Japanese patients with MPS I disease.
- Conditions
- Mucopolysaccharidosis I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00258011
- Testing
- Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
- Where
- 2 sites in Japan
- Volunteers
- 3 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis VI, Maroteaux-Lamy Syndrome
A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI
The purpose of the study is to evaluate the safety and efficacy of two dose levels of Naglazyme in infants under the age of one year who have MPS VI by monitoring physical appearance, x-ray of the skeletal system and growth.
- Trial name
- NCT00299000
- Testing
- Naglazyme
- Where
- 4 sites in United States, France and 1 more
- Volunteers
- 4 people
- Sponsor
- BioMarin Pharmaceutical