Hydroxychloroquin (HCQ) in chILD of Genetic Defect

NCT03822780 | Completed

• 1 other identifier: jzxfb-qlv
• Study Type: interventional
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this proposed research is to investigate the efficacy and safety of hydroxychloroquine sulfate (HCQ, Quensyl) for pediatric ILD(chILD) caused by pulmonary surfactant-associated genes mutations.

Conditions

Surfactant Dysfunction

Keywords

Interstitial lung disease; Hydroxychloroquine

Outcome Measures

Primary Outcomes (1)

• Oxygenation change

  Clinical judgment of oxygenation condition at 6 months compared with trial day 1 (demand of oxygen supplement while transcutaneous oxygen saturation no less than 92% and with no clinical manifestations of hypoxia)

  6 months

Secondary Outcomes (50)

• Oxygen flow rate

  1 month

• Oxygen flow rate

  3 month

• Oxygen flow rate

  12 month

• Oxygen flow rate

  18 month

• Oxygen flow rate

  24 month

Study Arms (1)

HCQ Therapy

EXPERIMENTAL

Hydroxychloroquine Sulfate (HCQ, Quensyl) in a loading dose of 10 mg/kg\*d, p.o., bid. After the illness gradually alleviate to maintain dose between 5mg/kg\*d to 10mg/kg\*d, p.o., bid ; the maximum daily dose is 400mg. Assess the efficacy and safety of HCQ after 6 months treatment compared with any other routine therapy before HCQ therapy (such as inhaling oxygen, corticosteroid, anti-infection therapy, nutritional support)

Drug: Hydroxychloroquin

Interventions

Hydroxychloroquin DRUG

Hydroxychloroquine Sulfate (HCQ, Quensyl) in a loading dose of 10 mg/kg\*d, p.o., bid. After the illness gradually alleviate to maintain dose between 5mg/kg\*d to 10mg/kg\*d, p.o., bid ; the maximum daily dose is 400mg.

Also known as: Hydroxychloroquine Sulfate; Plaquenil

HCQ Therapy

Eligibility Criteria

• Age: 1 Month - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Mature newborn ≥ 37 weeks of gestation, Infants and children (≥2month and \< 18y) or previously preterm (≤ 37 weeks of gestation) babies or children(≥2month and \<18y) if chILD genetically diagnosed
• chILD genetically diagnosed surfactant dysfunction disorders including patients with mutations in SFTPC, SFTPB, ABCA3, TTF1 (Nkx2-1), FOXF1 further extremely rare entities with specific mutations, for example in TBX4, NPC2, NPC1, NPB, COPA, LRBA and other genes
• no HCQ treatment in the last 3 months
• Ability of subject or/and legal representatives to understand character and individual consequences of clinical trial
• Signed and dated informed consent of the subject (if subject has the ability) and the representatives (of underaged children) must be available before start of any specific trial procedures

You may not qualify if:

• Subjects presenting with any of the following criteria will not be included in the trial:
• chILD primarily related to developmental disorders
• chILD primarily related to growth abnormalities reflecting deficient alveolarization
• chILD related to chronic aspiration
• chILD related to immunodeficiency
• chILD related to abnormalities in lung vessel structure
• chILD related to organ transplantation/organ rejection/GvHD
• chILD related to recurrent infections
• Acute severe infectious exacerbations
• Known hypersensitivity to HCQ, or other ingredients of the tablets
• Proven retinopathy or maculopathy
• Glucose-6-phosphate-dehydrogenase deficiency resulting in favism or hemolytic anemia
• Myasthenia gravis
• Hematopoetic disorders
• Participation in other clinical trials during the present clinical trial or not beyond the time of 4 half-lives of the medication used, at least one week

Sponsors & Collaborators

• Children's Hospital of Fudan University: lead

Study Sites (1)

Children's hospital of Fudan University

Shanghai, Shanghai Municipality, 201102, China

Location

Related Publications (10)

• Clement A, Nathan N, Epaud R, Fauroux B, Corvol H. Interstitial lung diseases in children. Orphanet J Rare Dis. 2010 Aug 20;5:22. doi: 10.1186/1750-1172-5-22.

  PMID: 20727133 BACKGROUND

• Nathan N, Borensztajn K, Clement A. Genetic causes and clinical management of pediatric interstitial lung diseases. Curr Opin Pulm Med. 2018 May;24(3):253-259. doi: 10.1097/MCP.0000000000000471.

  PMID: 29517585 BACKGROUND

• Barnett HL. editor. Pediatrics. 15th edition. New York: Appleton Century-Crofts; 1972. pp 1315-1316.

  BACKGROUND

• Rosen DM, Waltz DA. Hydroxychloroquine and surfactant protein C deficiency. N Engl J Med. 2005 Jan 13;352(2):207-8. doi: 10.1056/NEJM200501133520223. No abstract available.

  PMID: 15647591 BACKGROUND

• Kroner C, Reu S, Teusch V, Schams A, Grimmelt AC, Barker M, Brand J, Gappa M, Kitz R, Kramer BW, Lange L, Lau S, Pfannenstiel C, Proesmans M, Seidenberg J, Sismanlar T, Aslan AT, Werner C, Zielen S, Zarbock R, Brasch F, Lohse P, Griese M. Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients. Eur Respir J. 2015 Jul;46(1):197-206. doi: 10.1183/09031936.00129414. Epub 2015 Feb 5.

  PMID: 25657025 BACKGROUND

• Hevroni A, Goldman A, Springer C. Infant pulmonary function testing in chronic pneumonitis of infancy due to surfactant protein C mutation. Pediatr Pulmonol. 2015 Jun;50(6):E17-23. doi: 10.1002/ppul.23166. Epub 2015 Mar 9.

  PMID: 25755194 BACKGROUND

• Avital A, Hevroni A, Godfrey S, Cohen S, Maayan C, Nusair S, Nogee LM, Springer C. Natural history of five children with surfactant protein C mutations and interstitial lung disease. Pediatr Pulmonol. 2014 Nov;49(11):1097-105. doi: 10.1002/ppul.22971. Epub 2013 Dec 17.

  PMID: 24347114 BACKGROUND

• Thouvenin G, Abou Taam R, Flamein F, Guillot L, Le Bourgeois M, Reix P, Fayon M, Counil F, Depontbriand U, Feldmann D, Pointe HD, de Blic J, Clement A, Epaud R. Characteristics of disorders associated with genetic mutations of surfactant protein C. Arch Dis Child. 2010 Jun;95(6):449-54. doi: 10.1136/adc.2009.171553. Epub 2010 Apr 19.

  PMID: 20403820 BACKGROUND

• Hepping N, Griese M, Lohse P, Garbe W, Lange L. Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine. J Perinatol. 2013 Jun;33(6):492-4. doi: 10.1038/jp.2012.131.

  PMID: 23719253 BACKGROUND

• Arikan-Ayyildiz Z, Caglayan-Sozmen S, Isik S, Deterding R, Dishop MK, Couderc R, Epaud R, Louha M, Uzuner N. Survival of an infant with homozygous surfactant protein C (SFTPC) mutation. Pediatr Pulmonol. 2014 Mar;49(3):E112-5. doi: 10.1002/ppul.22976. Epub 2013 Dec 17.

  PMID: 24347240 BACKGROUND

MeSH Terms

Conditions

Surfactant Dysfunction; Lung Diseases, Interstitial

Interventions

Hydroxychloroquine

Condition Hierarchy (Ancestors)

Lung Diseases; Respiratory Tract Diseases

Intervention Hierarchy (Ancestors)

Chloroquine; Aminoquinolines; Quinolines; Heterocyclic Compounds, 2-Ring; Heterocyclic Compounds, Fused-Ring; Heterocyclic Compounds

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: cross-control

Study Record Dates

• First Submitted: January 15, 2019
• First Posted: January 30, 2019
• Study Start: July 1, 2017
• Primary Completion: March 15, 2026
• Study Completion: March 15, 2026
• Last Updated: March 19, 2026

Record last verified: 2026-03

Locations

CN (1)